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Primary retroperitoneal mucinous cystic tumour of borderline malignancy mimicking kidney duplicate: cases report and literature review

open access: yesBMC Urology, 2023
Background Primary retroperitoneal mucinous cystic tumours with borderline malignancy (PRMC-BM) are rare and difficult to diagnose preoperatively. We are the first to report two cases of PRMC-BM which mimic a duplex kidney and evaluate the outcomes of ...
Junlong Zhang   +5 more
doaj   +1 more source

Pediatric cystic diseases of the kidney

open access: yesJournal of Ultrasound, 2019
Pediatric renal cystic diseases include a variety of hereditary or non-hereditary conditions. Numerous classifications exist and new data are continuously published. Ultrasound is the primary technique for evaluating kidneys in children: conventional and high-resolution US allows a detailed visualization of renal parenchyma and of number, size and ...
Ferro F.   +9 more
openaire   +5 more sources

Wall Tension and Tubular Resistance in Kidney Cystic Conditions

open access: yesBiomedicines, 2023
The progressive formation of single or multiple cysts accompanies several renal diseases. Specifically, (i) genetic forms, such as adult dominant polycystic kidney disease (ADPKD), and (ii) acquired cystic kidney disease (ACKD) are probably the most ...
Michele Della Corte, Davide Viggiano
doaj   +1 more source

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

open access: yesKidney International, 2013
Rare single-gene disorders cause chronic disease. However, half of the 6,000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers ...
H. Gee   +40 more
semanticscholar   +1 more source

Centrosome amplification disrupts renal development and causes cystogenesis [PDF]

open access: yes, 2018
International ...
Amanda Knoten   +79 more
core   +5 more sources

Nephronophthisis and medullary cystic kidney disease complex [PDF]

open access: yesVojnosanitetski Pregled, 2005
Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern
Stanišić Marijana   +3 more
doaj   +1 more source

Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation

open access: yesMedeniyet Medical Journal, 2021
Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. Heterozygous mutations are associated with renal cysts and diabetes syndrome.
Nilüfer Göknar   +5 more
doaj   +1 more source

The role of renal transporters and novel regulatory interactions in the TAL that control blood pressure [PDF]

open access: yes, 2017
Hypertension (HTN), a major public health issue is currently the leading factor in the global burden of disease, where associated complications account for 9.4 million deaths worldwide every year (98).
Dominiczak, Anna   +2 more
core   +1 more source

Clinical utility of genetic testing in Indian children with kidney diseases

open access: yesBMC Nephrology, 2023
Background Kidney diseases with genetic etiology in children present with an overlapping spectrum of manifestations. We aimed to analyze the clinical utility of genetic testing in the diagnosis and management of suspected genetic kidney diseases in ...
Anshuman Saha   +3 more
doaj   +1 more source

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

open access: yesActa Medica Lituanica, 2021
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare.
Dovilė Ruzgienė   +4 more
doaj   +1 more source

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